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Biomedical subjects

J A Pare

Publications and source records attributed to J A Pare.

8 recordsLinked to original sources
PubMed1989

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.

To identify the chromosomal location of a gene responsible for familial hypertrophic cardiomyopathy, we used clinical and molecular genetic techniques to evaluate the members of a large kindred. Twenty surviving and 24 deceased family members had hypertrophic cardiomyopathy; 58 surviving members were unaffected. Genetic-linkage analyses were performed with polymorphic DNA loci dispersed throughout the entire genome, to identify a locus that was inherited with hypertrophic cardiomyopathy in family members. The significance of the linkage detected between the disease locus and polymorphic loci was assessed by calculating a lod score (the logarithm of the probability of observing coinheritance of two loci, assuming that they are genetically linked, divided by the probability of detecting coinheritance if they are unlinked). A DNA locus (D14S26), previously mapped to chromosome 14 and of unknown function, was found to be coinherited with the disease in this family. No instances of recombination were observed between the locus for familial hypertrophic cardiomyopathy and D14S26, yielding a lod score of +9.37 (theta = 0). These data indicate that in this kindred, the odds are greater than 2,000,000,000:1 that the gene responsible for familial hypertrophic cardiomyopathy is located on chromosome 14 (band q1).

Adolescent↗
PubMed1986

Surgical treatment of lung cancer: promise and problems of early diagnosis.

Recent studies have shown that the survival of patients with lung cancer is improved if the tumour is resected before it becomes larger than 3 cm in diameter and before it spreads to lymph nodes. While this suggests a positive benefit from early detection, recent mass-screening studies have claimed that the benefit obtained from this procedure is illusory because it relates to a lead-time bias. This study reports the results of surgical resection of 143 primary lung cancers. The data confirmed that the predicted 5-year survival was greatest (74%) following resection of lesions that were less than 3 cm in diameter without node involvement. Analysis showed that the age of these patients was 63 +/- 8 years, the same as in patients with larger tumours and more extensive node involvement. This suggests that tumours progress rapidly from a stage at which resection is beneficial to stages at which it is not. Although it is desirable that tests predict the presence of small tumours, the high requirements for sensitivity and specificity at current prevalence rates for lung cancer make this goal impractical.

Adenocarcinoma↗
PubMed1981

Superior vena caval obstruction. Is it a medical emergency?

With the question in mind is superior vena caval obstruction a medical emergency, we reviewed 107 cases of superior vena caval obstruction in adult patients. We sought details of the time duration between the onset of symptoms and the treatment, and examined the complication and survival of patients with this disorder. Fifteen percent of the cases developed from benign causes. In 41 percent there was a previously recognized disease as the etiology. Benign disorders required longer to make the diagnosis. No serious complication resulted from the superior vena caval obstruction itself nor investigative procedures leading to the diagnosis despite, in some cases, a prolonged period between the onset of symptoms and the initiation of therapy. Prognosis and response to treatment were dependent on the underlying cause of the superior vena caval obstruction. Although several cases of tracheal obstruction were included in this series, we did not address the question of whether tracheal obstruction is or is not a medical emergency. No support was found for the notion that superior vena caval obstruction in itself represents a radiotherapeutic emergency.

Adult↗
PubMed1981

Lung sounds in patients with emphysema.

We recorded an index of breath sound intensity (Ib) and the transmission of white noise (Tn) over four lung regions between apex and base in eight subjects with emphysema. The Ib and Tn were recorded over the whole range of lung volume from residual volume to total lung capacity. Each value was expressed as a fraction of the value recorded over the apical region with the help of an analog divider. The ratio of Ib to Tn was computed to correct for differences in Ib due to differences in transmission of sound. The ratio of Ib and Tn was computed to correct for differences in Ib due to differences in transmission of sound. The ratio of Ib to Tn was also expressed as a fraction of the value recorded over the apex. Both Ib and Tn had definite patterns in subjects with emphysema but varied considerably from breath to breath. The Ib and Tn were more reproducible in normal subjects. The magnitude and the sequence of Ib, Tn, and Ib/Tn were also different in subjects with emphysema and normal subjects. The ratio of Ib to Tn is an index of sound production in both normal subjects and subjects with emphysema. We conclude that both production and transmission of breath sounds vary from breath to breath in patients with emphysema. There are areas of both increased and decreased production and transmission of sound. If regional breath sound production (Ib/Tn) is related to regional ventilation in persons with emphysema as in normal subjects, these findings further suggest that regional ventilation varies from breath to breath and is also altered drastically from the normal pattern, leading to a severe ventilation and perfusion inequality so characteristic of emphysematous lungs.

Female↗
PubMed1978

Talc retinopathy.

We observed talc particles in the retinal vessels of nine out of 17 addicts to intravenous methadone. The retinopathy was found in patients who had injected more than 9,000 tablets. In seven the chest roentgenograms showed a diffuse micronodular pattern which progresses to resemble massive pulmonary fibrosis and is associated with severe disability. The ophthalmologist must recognize this entity since he may be the first to identify drug abusers who inject oral medications containing talc. Early detection and counselling may prevent the severe pulmonary complications.

Adult↗
PubMed1966

Human lung homotransplantation.

Left lung homotransplantation was performed in a 31-year-old man in terminal irreversible respiratory failure due to advanced silicosis. Within 10 minutes of completion of transplantation, arterial pO(2) rose from 52 to 211 mm. Hg, pCO(2) dropped from 90 to 43 mm. Hg, and pH rose from 7.15 to 7.42. On assisted ventilation, arterial O(2) tension was maintained within normal limits for the first four days. Thereafter, arterio-alveolar difference for O(2) increased to 300 mm. and that for CO(2) to 25 mm. Xenon-133 ventilation perfusion ratios confirmed differences between the two lungs. Terminally, bronchopneumonia and hypoxemia were present. Surfactant content of the lung was within normal limits. Postmortem examination revealed bronchopneumonia, bronchial infarction, lymphatic engorgement and mild rejection. Future efforts should emphasize selection of non-infected donors, minimal reliance on steroids for immunosuppression, cardiopulmonary bypass during transplantation, and more definite criteria for rejection.

Adult↗